Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2 Article Swipe
Felix Kleefeld
,
Rita Horvàth
,
Iago Pinal‐Fernandez
,
Andrew L. Mammen
,
María Casal-Domínguez
,
Denisa Hathazi
,
Sarah Melchert
,
Katrin Hahn
,
Albert Sickmann
,
Claudia Muselmann-Genschow
,
Andreas Hentschel
,
Corinna Preuße
,
Andreas Roos
,
Benedikt Schoser
,
Werner Stenzel
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1007/s00401-023-02673-y
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1007/s00401-023-02673-y
Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy, myotonia, and myalgia. The disease-causing CCTG tetranucleotide expansion within the CNBP gene on chromosome 3 leads to an RNA-dominated spliceopathy, which is currently untreatable. Research exploring the pathophysiological mechanisms in myotonic dystrophy type 1 has resulted in new insights into disease mechanisms and identified mitochondrial dysfunction as a promising therapeutic target. It remains unclear whether similar mechanisms underlie DM2 and, if so, whether these might also serve as potential therapeutic targets. In this cross-sectional study, we studied DM2 skeletal muscle biopsy specimens on proteomic, molecular, and morphological, including ultrastructural levels in two separate patient cohorts consisting of 8 (explorative cohort) and 40 (confirmatory cohort) patients. Seven muscle biopsy specimens from four female and three male DM2 patients underwent proteomic analysis and respiratory chain enzymology. We performed bulk RNA sequencing, immunoblotting of respiratory chain complexes, mitochondrial DNA copy number determination, and long-range PCR (LR-PCR) to study mitochondrial DNA deletions on six biopsies. Proteomic and transcriptomic analyses revealed a downregulation of essential mitochondrial proteins and their respective RNA transcripts, namely of subunits of respiratory chain complexes I, III, and IV (e.g., mt-CO1, mt-ND1, mt-CYB, NDUFB6) and associated translation factors (TACO1). Light microscopy showed mitochondrial abnormalities (e.g., an age-inappropriate amount of COX-deficient fibers, subsarcolemmal accumulation) in most biopsy specimens. Electron microscopy revealed widespread ultrastructural mitochondrial abnormalities, including dysmorphic mitochondria with paracrystalline inclusions. Immunofluorescence studies with co-localization of autophagy (p62, LC-3) and mitochondrial marker proteins (TOM20, COX-IV), as well as immunohistochemistry for mitophagy marker BNIP3 indicated impaired mitophagic flux. Immunoblotting and LR-PCR did not reveal significant differences between patients and controls. In contrast, mtDNA copy number measurement showed a reduction of mtDNA copy numbers in the patient group compared to controls. This first multi-level study of DM2 unravels thus far undescribed functional and structural mitochondrial abnormalities. However, the molecular link between the tetranucleotide expansion and mitochondrial dysfunction needs to be further elucidated.
Related Topics
Concepts
Myotonic dystrophy
Biology
Mitochondrial DNA
Muscle biopsy
Mitochondrion
Pathology
Respiratory chain
Mitochondrial respiratory chain
Mitochondrial myopathy
Mitochondrial disease
Genetics
Molecular biology
Biopsy
Gene
Medicine
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s00401-023-02673-y
- https://link.springer.com/content/pdf/10.1007/s00401-023-02673-y.pdf
- OA Status
- hybrid
- Cited By
- 10
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4391025051
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4391025051Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1007/s00401-023-02673-yDigital Object Identifier
- Title
-
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2Work title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-01-19Full publication date if available
- Authors
-
Felix Kleefeld, Rita Horvàth, Iago Pinal‐Fernandez, Andrew L. Mammen, María Casal-Domínguez, Denisa Hathazi, Sarah Melchert, Katrin Hahn, Albert Sickmann, Claudia Muselmann-Genschow, Andreas Hentschel, Corinna Preuße, Andreas Roos, Benedikt Schoser, Werner StenzelList of authors in order
- Landing page
-
https://doi.org/10.1007/s00401-023-02673-yPublisher landing page
- PDF URL
-
https://link.springer.com/content/pdf/10.1007/s00401-023-02673-y.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
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https://link.springer.com/content/pdf/10.1007/s00401-023-02673-y.pdfDirect OA link when available
- Concepts
-
Myotonic dystrophy, Biology, Mitochondrial DNA, Muscle biopsy, Mitochondrion, Pathology, Respiratory chain, Mitochondrial respiratory chain, Mitochondrial myopathy, Mitochondrial disease, Genetics, Molecular biology, Biopsy, Gene, MedicineTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
10Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 3Per-year citation counts (last 5 years)
- References (count)
-
28Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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